EMILIN1 - elastin microfibril interfacer 1 Gene

Homo sapiens

Also known as EMI; HMN10; gp115; EMILIN

Gene ID: 11117 | Gene type: protein coding

About EMILIN1

Cytogenetic location: 2p23.3 Genomic coordinates (GRCh38): 2:27,078,615-27,086,403 (from NCBI)

This gene has 2 transcripts (splice variants), 259 orthologues, 4 paralogues and is associated with 1 phenotype. Broad expression in endometrium (RPKM 33.6), prostate (RPKM 26.6) and 20 other tissues.

Summary

This gene encodes an extracellular matrix glycoprotein that is characterized by an N-terminal microfibril interface domain, a coiled-coiled alpha-helical domain, a collagenous domain and a C-terminal globular C1q domain. The encoded protein associates with elastic fibers at the interface between elastin and microfibrils and may play a role in the development of elastic tissues including large blood vessels, dermis, heart and lung. [provided by RefSeq, Sep 2009]

EMILIN1 Products(1)

mRNA	Protein	Name
NM_007046.4	NP_008977.1	EMILIN-1 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	Reference	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	10821830	GOA
enables integrin binding involved in cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	18463100	GOA
enables molecular adaptor activity	IMP IMP: Inferred from mutant phenotype	18463100	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	11278945	GOA

Biological Process GO Annotation	Evidence	Reference	Source
involved in cell migration	IMP IMP: Inferred from mutant phenotype	18463100	GOA
involved in cell-matrix adhesion	IMP IMP: Inferred from mutant phenotype	18463100	GOA
involved in positive regulation of defense response to bacterium	IDA IDA: Inferred from direct assay	17988845	GOA

Cellular Component GO Annotation	Evidence	Reference	Source
part of EMILIN complex	IMP IMP: Inferred from mutant phenotype	18463100	GOA
part of EMILIN complex	IPI IPI: Inferred from physical interaction	10821830	GOA
located in collagen-containing extracellular matrix	IMP IMP: Inferred from mutant phenotype	26462740	GOA
located in extracellular space	IMP IMP: Inferred from mutant phenotype	26462740	GOA
part of integrin alpha4-beta1 complex	IMP IMP: Inferred from mutant phenotype	18463100	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

EMILIN1 Protein Structure

EMI

Collagen

C1q

0
200
400
600
800
1016 a.a.

Protein Preferred Names

Protein Names

EMILIN-1

elastin microfibril interface-located protein 1

EMILIN1 Protein-protein interaction Information

Type Cross Intra	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	Reference
Intra	EMILIN1	Q9Y6C2	BEX5	Homo sapiens	Q5H9J7	Y2H Array	31515488
Intra	EMILIN1	Q9Y6C2	LAIR2	Homo sapiens	Q6ISS4	Y2H Array	25416956
Intra	EMILIN1	Q9Y6C2	LAIR2	Homo sapiens	Q6ISS4	Y2H Prey Pooling	25416956
Intra	EMILIN1	Q9Y6C2	RIBC1	Homo sapiens	Q8N443	Y2H Prey Pooling	25416956
Intra	EMILIN1	Q9Y6C2	RIBC1	Homo sapiens	Q8N443	Validated Y2H	25416956
Intra	EMILIN1	Q9Y6C2	RIBC1	Homo sapiens	Q8N443	Y2H Array	25416956
Intra	EMILIN1	Q9Y6C2	MIA2	Homo sapiens	Q96PC5	Y2H Prey Pooling	25416956
Intra	EMILIN1	Q9Y6C2	NMI	Homo sapiens	Q13287	Y2H Prey Pooling	25416956
Intra	EMILIN1	Q9Y6C2	PLAC9	Homo sapiens	Q5JTB6	Y2H Prey Pooling	25416956
Intra	EMILIN1	Q9Y6C2	PLAC9	Homo sapiens	Q5JTB6	Validated Y2H	25416956
Intra	EMILIN1	Q9Y6C2	PLAC9	Homo sapiens	Q5JTB6	Y2H Array	25416956
Intra	EMILIN1	Q9Y6C2	PLAC9	Homo sapiens	Q5JTB6	MAPPIT	25416956
Intra	EMILIN1	Q9Y6C2	PLAC9	Homo sapiens	Q5JTB6	Anti Tag CoIP	25416956
Intra	EMILIN1	Q9Y6C2	TAX1BP1	Homo sapiens	Q86VP1	Y2H Array	25416956
Intra	EMILIN1	Q9Y6C2	TAX1BP1	Homo sapiens	Q86VP1	Anti Tag CoIP	33961781
Intra	EMILIN1	Q9Y6C2	ZC2HC1C	Homo sapiens	Q53FD0	Validated Y2H	25416956
Intra	EMILIN1	Q9Y6C2	ZC2HC1C	Homo sapiens	Q53FD0	Y2H Array	25416956
Intra	EMILIN1	Q9Y6C2	BEX3	Homo sapiens	Q00994	Y2H Array	25416956
Intra	EMILIN1	Q9Y6C2	MTMR9	Homo sapiens	Q96QG7	Y2H Array	29892012
Intra	EMILIN1	Q9Y6C2	MTMR9	Homo sapiens	Q96QG7	Y2H	21516116
Intra	EMILIN1	Q9Y6C2	MTMR9	Homo sapiens	Q96QG7	Y2H Pooling	16189514
Intra	EMILIN1	Q9Y6C2	MTMR9	Homo sapiens	Q96QG7	Y2H Pooling	19447967
Intra	EMILIN1	Q9Y6C2	MTMR9	Homo sapiens	Q96QG7	Y2H Array	31515488
Intra	EMILIN1	Q9Y6C2	MTMR9	Homo sapiens	Q96QG7	Y2H Prey Pooling	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases

Alias

Neuronopathy, Distal Hereditary Motor, Type X

HMN10	Neuropathy, Distal Hereditary Motor, Type X
Dhmn10

Emilin-1-Related Connective Tissue Disease

Arterial Tortuosity Syndrome

Arterial Tortuosity	Ats
ATORS	Tortuosity, Arterial, Syndrome

Parosteal Osteosarcoma

Juxtacortical Osteosarcoma	Parosteal Osteogenic Sarcoma
Osteosarcoma, Juxtacortical

Peripheral Osteosarcoma

Surface Osteosarcoma

Bone Surface Osteosarcoma

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Bioactive Molecules (1)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS04350	EMILIN1 Human Pre-designed siRNA Set A	Pre-designed Sets	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Felis catus	EMILIN1	VGNC	VGNC:61845
Bos taurus	EMILIN1	VGNC	VGNC:28473
Mus musculus	EMILIN1	MGD	MGI:1926189
Rattus norvegicus	EMILIN1	RGD	RGD:1311209
Macaca mulatta	EMILIN1	VGNC	VGNC:72075
Canis familiaris	EMILIN1	VGNC	VGNC:40343

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